Patient Story and Film: ASMD and the Hope for Expanded Treatment Options

Jillian Arnold, mother to two children with ASMD (Acid Sphingomyelinase Deficiency) will discuss the impacts of this disease on her family and what treatments are available now and on the near horizon. Jillian is also an author and hosts a podcast for rare disease parents: Confessions of a Rare Disease Mama. Joining Jillian in discussion will be the perspective of the biotech companies driving research on ASMD forward and how they work together with patients and advocates. The discussion will be moderated by Daniel DeFabio, co-founder of Disorder: The Rare Disease Film Festival. Daniel is a patient advocacy professional and dad to Lucas who lived with the rare disease Menkes Syndrome. The discussion follows a screening of the seven-minute film “Hold on to Hope” from The Disorder Channel, which offers a glimpse into the lives of Jillian’s children Stella and Roman. About the Film: “Hold on to Hope” Both of Jillian's children have a rare and terminal condition called “ASMD.” (Acid Sphingomyelinase Deficiency) historically known as a form of Niemann-Pick disease. ASMD often affects the liver, lungs, spleen, and blood, as well as the digestive system. The gene involved in ASMD is called SMPD1.